Canonical Allele Identifier: CA2648555325

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612487-TTACTAAAGTTTGCACTCCTCATGCCTGGAACATAGTAAGCATTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612490_158612535del , CM000663.2:g.158612490_158612535del	GRCh38
NC_000001.10:g.158582280_158582325del , CM000663.1:g.158582280_158582325del	GRCh37
NC_000001.9:g.156848904_156848949del	NCBI36
NG_011474.1:g.79184_79229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+284_7134+329del MANE Select	ENSP00000495214.1:n.7134+284_7134+329del
ENST00000368147.8:c.7134+284_7134+329del	ENSP00000357129.4:n.7134+284_7134+329del
ENST00000614909.4:c.7134+284_7134+329del	ENSP00000482595.1:n.7134+284_7134+329del
NM_003126.2:c.7134+284_7134+329del	NP_003117.2:n.7134+284_7134+329del
XM_011509916.1:c.7134+284_7134+329del	XP_011508218.1:n.7134+284_7134+329del
XM_011509917.1:c.7116+284_7116+329del	XP_011508219.1:n.7116+284_7116+329del
NM_003126.3:c.7134+284_7134+329del	NP_003117.2:n.7134+284_7134+329del
XM_011509916.2:c.7134+284_7134+329del	XP_011508218.1:n.7134+284_7134+329del
XM_011509917.3:c.7116+284_7116+329del	XP_011508219.1:n.7116+284_7116+329del
NM_003126.4:c.7134+284_7134+329del MANE Select	NP_003117.2:n.7134+284_7134+329del